Calls for Collaboration
Download here the template to submit your call by email to the coordination team
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October 17, 2023
Coffin-Lowry syndrome in female patients: neurodevelopmental and malformative phenotype
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October 11, 2023
GABPB1 gene in intellectual disability
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October 9, 2023
Neurodevelopmental phenotypes associated to HSF2 deleterious variation
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October 6, 2023
Further clinical and genetic characterization of the KDM2B-related disorder
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September 28, 2023
Expanding the spectrum of the BCAS3-related disorder
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September 26, 2023
Further clinical and imaging characterisation of ZC4H2 related disorder
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September 21, 2023
Clinical features of SIGMAR1-related disorder
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September 20, 2023
Biallelic variants in ACER3 cause infantile and childhood-onset neurodegeneration
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September 20, 2023
Mitochondrial Complex I deficiency associated with biallelic NDUFA13 variants lead to Leigh syndrome
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August 10, 2023
Delineating the phenotype of Alkuraya-Kucinskas syndrome: focus on neuroradiology